Genomic variant #0000344416

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.9719048del
Reference Copied from the Exome Variant Server
DB-ID MTMR14_000045
Frequency 1/11502
Freq. EA 0/7874
Freq. AA 1/3628
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
MTMR14 NM_022485.4 ?/? c.799del r.(?) p.(Leu268Serfs*14)